Mutagenetix > Incidental Mutations

Incidental Mutation 'R1426:Abcc10'

162266

Institutional Source

Beutler Lab

Gene Symbol

Abcc10

Ensembl Gene

ENSMUSG00000032842

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 10

Synonyms

Mrp7

MMRRC Submission

039482-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R1426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46303221-46328352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46324435 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 214 (V214E)

Ref Sequence

ENSEMBL: ENSMUSP00000132561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047970] [ENSMUST00000095261] [ENSMUST00000167360] [ENSMUST00000168490] [ENSMUST00000171584]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047970
AA Change: V214E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: V214E

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	70	89	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC
transmembrane domain	134	153	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
Pfam:ABC_membrane	286	552	5.4e-24	PFAM
AAA	626	809	5.76e-8	SMART
low complexity region	841	852	N/A	INTRINSIC
Pfam:ABC_membrane	889	1203	1.7e-33	PFAM
low complexity region	1231	1245	N/A	INTRINSIC
AAA	1281	1490	3.57e-13	SMART
low complexity region	1506	1517	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095261
AA Change: V173E

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: V173E

Domain	Start	End	E-Value	Type
transmembrane domain	29	48	N/A	INTRINSIC
transmembrane domain	58	80	N/A	INTRINSIC
transmembrane domain	93	112	N/A	INTRINSIC
transmembrane domain	127	149	N/A	INTRINSIC
Pfam:ABC_membrane	245	511	2.1e-30	PFAM
AAA	585	768	5.76e-8	SMART
low complexity region	800	811	N/A	INTRINSIC
transmembrane domain	836	858	N/A	INTRINSIC
Pfam:ABC_membrane	896	1162	6.9e-26	PFAM
low complexity region	1190	1204	N/A	INTRINSIC
AAA	1240	1424	1.67e-13	SMART
low complexity region	1440	1451	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165733

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167360
AA Change: V214E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: V214E

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	70	89	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC
transmembrane domain	134	153	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
Pfam:ABC_membrane	286	552	2.2e-30	PFAM
AAA	626	809	5.76e-8	SMART
low complexity region	841	852	N/A	INTRINSIC
transmembrane domain	877	899	N/A	INTRINSIC
Pfam:ABC_membrane	937	1203	7.2e-26	PFAM
low complexity region	1231	1245	N/A	INTRINSIC
AAA	1281	1465	1.67e-13	SMART
low complexity region	1481	1492	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168490

SMART Domains

Protein: ENSMUSP00000132760
Gene: ENSMUSG00000032842

Domain	Start	End	E-Value	Type
AAA	75	242	4.61e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170168

Predicted Effect

probably damaging
Transcript: ENSMUST00000171584
AA Change: V214E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132561
Gene: ENSMUSG00000032842
AA Change: V214E

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	70	89	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC
transmembrane domain	134	153	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
Pfam:ABC_membrane	286	462	8.3e-18	PFAM

Meta Mutation Damage Score

0.0755

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.1%

Validation Efficiency

100% (40/40)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homzozygous for a knock-out allele exhibit increased sensitivity to paclitaxel-induced mortality associated with weight loss, decreased white blood cell, and small spleen and thymus cortex due to apoptosis and/or depopulation of lymphoid cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	G	3: 138,286,795	D224G	probably damaging	Het
Arhgap28	C	A	17: 67,857,464	Q554H	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Brat1	G	A	5: 140,718,013	V674I	probably benign	Het
Brd2	ATCTTCTTC	ATCTTC	17: 34,114,007		probably benign	Het
Ccdc162	T	C	10: 41,553,182	D438G	possibly damaging	Het
Cyp4x1	T	A	4: 115,112,791		probably benign	Het
Dip2a	T	C	10: 76,279,820		probably benign	Het
Eif2s1	A	G	12: 78,881,168	D206G	probably benign	Het
Elovl7	T	A	13: 108,282,494	I220N	possibly damaging	Het
Gsto1	A	G	19: 47,857,942	E76G	probably damaging	Het
Hspa14	A	T	2: 3,508,821	W12R	probably damaging	Het
L3mbtl2	T	A	15: 81,676,317	C260S	possibly damaging	Het
Lama3	G	T	18: 12,481,098		probably null	Het
Lrrc34	T	A	3: 30,643,579		probably benign	Het
Lrrc45	A	T	11: 120,720,013	Q525L	probably benign	Het
Lss	T	C	10: 76,536,303	I164T	probably damaging	Het
Myh11	T	A	16: 14,205,931	K1527*	probably null	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Ncoa1	T	A	12: 4,270,737		probably benign	Het
Olfr262	G	T	19: 12,241,182	Q160K	possibly damaging	Het
Olfr768	A	T	10: 129,093,690	C95S	probably damaging	Het
Pafah1b3	T	C	7: 25,297,135	E41G	possibly damaging	Het
Pnmal1	C	T	7: 16,960,984	P255S	possibly damaging	Het
Prkar2b	A	T	12: 31,962,988		probably benign	Het
Rbck1	A	T	2: 152,327,241		probably benign	Het
Rcor2	A	G	19: 7,271,030	S137G	possibly damaging	Het
Slc25a48	T	A	13: 56,448,991		probably benign	Het
Slc7a4	A	G	16: 17,573,944		probably null	Het
Tert	T	C	13: 73,642,353		probably benign	Het
Traf7	A	T	17: 24,511,681	I344N	probably damaging	Het
Vmn1r194	T	A	13: 22,245,066	F284L	probably damaging	Het
Xpc	A	G	6: 91,493,238	M699T	probably damaging	Het
Zbtb5	T	C	4: 44,993,968	H472R	possibly damaging	Het
Zfp786	A	G	6: 47,825,079	V88A	probably benign	Het
Zkscan7	T	C	9: 122,895,163	I399T	probably benign	Het
Zyg11b	G	A	4: 108,250,812	R466C	probably damaging	Het

Other mutations in Abcc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Abcc10	APN	17	46323745	missense	probably damaging	1.00
IGL01115:Abcc10	APN	17	46310426	missense	probably benign
IGL01380:Abcc10	APN	17	46324022	missense	possibly damaging	0.90
IGL01476:Abcc10	APN	17	46327937	utr 5 prime	probably benign
IGL01723:Abcc10	APN	17	46313745	missense	probably damaging	1.00
IGL01867:Abcc10	APN	17	46324438	missense	probably benign	0.07
IGL02065:Abcc10	APN	17	46312901	missense	possibly damaging	0.60
IGL02233:Abcc10	APN	17	46324159	splice site	probably null
IGL03394:Abcc10	APN	17	46324351	missense	probably damaging	1.00
Decrepit	UTSW	17	46324391	missense	probably damaging	1.00
Shrivelled	UTSW	17	46312419	missense	probably benign
PIT4514001:Abcc10	UTSW	17	46305648	missense	probably benign
R0366:Abcc10	UTSW	17	46324798	nonsense	probably null
R0437:Abcc10	UTSW	17	46312919	splice site	probably null
R0437:Abcc10	UTSW	17	46312920	splice site	probably benign
R0549:Abcc10	UTSW	17	46322290	missense	probably damaging	1.00
R0580:Abcc10	UTSW	17	46305956	splice site	probably null
R1056:Abcc10	UTSW	17	46303954	missense	possibly damaging	0.60
R1595:Abcc10	UTSW	17	46322238	missense	probably damaging	1.00
R1745:Abcc10	UTSW	17	46312433	missense	probably benign
R1856:Abcc10	UTSW	17	46306603	missense	probably damaging	1.00
R1968:Abcc10	UTSW	17	46322199	missense	probably damaging	1.00
R2070:Abcc10	UTSW	17	46303565	missense	probably benign
R2071:Abcc10	UTSW	17	46303565	missense	probably benign
R2255:Abcc10	UTSW	17	46305635	missense	probably benign	0.18
R2425:Abcc10	UTSW	17	46310157	missense	probably damaging	1.00
R4116:Abcc10	UTSW	17	46323891	missense	possibly damaging	0.50
R4510:Abcc10	UTSW	17	46307210	missense	probably damaging	0.98
R4511:Abcc10	UTSW	17	46307210	missense	probably damaging	0.98
R4645:Abcc10	UTSW	17	46324774	missense	probably damaging	1.00
R4689:Abcc10	UTSW	17	46324070	missense	probably benign	0.00
R4778:Abcc10	UTSW	17	46304416	missense	probably damaging	1.00
R5364:Abcc10	UTSW	17	46305651	missense	probably benign	0.25
R5384:Abcc10	UTSW	17	46304435	missense	possibly damaging	0.83
R5509:Abcc10	UTSW	17	46324259	missense	probably benign	0.01
R5568:Abcc10	UTSW	17	46303908	splice site	probably null
R5798:Abcc10	UTSW	17	46306003	nonsense	probably null
R5906:Abcc10	UTSW	17	46316559	missense	probably benign	0.02
R5908:Abcc10	UTSW	17	46313804	missense	probably damaging	1.00
R5942:Abcc10	UTSW	17	46312407	missense	probably benign	0.02
R5968:Abcc10	UTSW	17	46310151	missense	probably benign
R6038:Abcc10	UTSW	17	46304360	missense	probably damaging	1.00
R6038:Abcc10	UTSW	17	46304360	missense	probably damaging	1.00
R6109:Abcc10	UTSW	17	46310377	missense	probably benign	0.00
R6623:Abcc10	UTSW	17	46323462	missense	probably damaging	1.00
R6851:Abcc10	UTSW	17	46312419	missense	probably benign
R6927:Abcc10	UTSW	17	46324391	missense	probably damaging	1.00
R7176:Abcc10	UTSW	17	46324277	missense	probably benign	0.02
R7314:Abcc10	UTSW	17	46315404	missense	probably damaging	0.98
R7463:Abcc10	UTSW	17	46323772	missense	probably damaging	1.00
R7527:Abcc10	UTSW	17	46312904	missense	possibly damaging	0.58
R7584:Abcc10	UTSW	17	46315378	splice site	probably null
R7862:Abcc10	UTSW	17	46315532	nonsense	probably null
R7883:Abcc10	UTSW	17	46307101	missense	probably benign	0.03
R7896:Abcc10	UTSW	17	46324309	missense	probably benign	0.08
R7897:Abcc10	UTSW	17	46324073	missense	probably benign	0.00
R8316:Abcc10	UTSW	17	46327809	missense	probably damaging	0.99
R8354:Abcc10	UTSW	17	46324177	missense	possibly damaging	0.75
R8414:Abcc10	UTSW	17	46312347	missense	probably benign	0.28
R8454:Abcc10	UTSW	17	46324177	missense	possibly damaging	0.75
X0020:Abcc10	UTSW	17	46324120	missense	probably damaging	0.98
Z1176:Abcc10	UTSW	17	46313700	missense	probably damaging	0.97
Z1176:Abcc10	UTSW	17	46324262	missense	probably benign	0.00
Z1177:Abcc10	UTSW	17	46307062	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCTTCAACAGTCCAAGGGCCAG -3'
(R):5'- TTGTTTTGCCTCCAGGGTCACG -3'

Sequencing Primer
(F):5'- GGGCCAGGTAGCAACATC -3'
(R):5'- CCCTTATGGCTAGAGGTGC -3'

Posted On

2014-03-14